Aliases for MYBPC3 Gene
External Ids for MYBPC3 Gene
Previous HGNC Symbols for MYBPC3 Gene
Previous GeneCards Identifiers for MYBPC3 Gene
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
GeneCards Summary for MYBPC3 Gene
MYBPC3 (Myosin Binding Protein C3) is a Protein Coding gene. Diseases associated with MYBPC3 include Cardiomyopathy, Familial Hypertrophic, 4 and Left Ventricular Noncompaction 10. Among its related pathways are Dilated cardiomyopathy (DCM) and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of muscle. An important paralog of this gene is MYBPC2.
UniProtKB/Swiss-Prot Summary for MYBPC3 Gene
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.